Summitt syndrome

Orpha code: 3210OMIM code: 272350

Definicja

A rare syndromic trigonocephaly characterized by marked malformations of the head and face (essentially acrocephaly), broad depressed nasal bridge, narrow maxillae, abnormalities of the hands and feet (polydactyly, brachydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), obesity and congenital heart disease. This disease is considered a variant of Carpenter syndrome without intellectual disabaility. There have been no further descriptions in the literature since 1992.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
3210
Kod OMIM
272350
Kod ICD10
Q82.0
Kod ICD11
-

No additional description.

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